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1 OMIM reference -
5 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
10 signs/symptoms
Gastrointestinal stromal tumor
Metachondromatosis

KIT PTPN11
PDGFRA
SDHA
SDHB
SDHC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIT
PDGFRA
(0.9)
(0.65)
PTPN11
PTPN11



Citations in the biomedical literature:


Gastrointestinal stromal tumor
KIT PDGFRA SDHA SDHB SDHC
Metachondromatosis
PTPN11



Gastrointestinal stromal tumor
Metachondromatosis

Synonym(s):
- GIST

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D046152
External references:
1 OMIM reference -
No MeSH references

Gastrointestinal stromal tumor
Metachondromatosis

Very frequent
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Sarcoma

Frequent
- Asthenia / fatigue / weakness
- Constipation
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Intestinal perforation
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Occasional
- Anaemia
- Colon neoplasm / tumor / carcinoma / cancer
- Cutaneous rash
- Digestive neoplasm / tumor / carcinoma / cancer
- Esophageal neoplasm / tumor / carcinoma / cancer
- Hepatitis / icterus / cholestasis
- Irregular / in bands / reticular skin hyperpigmentation
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Small bowel neoplasm / tumor / carcinoma / cancer


Very frequent
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Metaphyseal anomaly
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications